{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA645561512",
  "communityStandardTitle": [
    "NM_005228.5(EGFR):c.2237_2252delinsT (p.Glu746_Thr751delinsVal)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=12386",
        "active": true,
        "id": "COSM12386"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=133192",
        "active": true,
        "id": "COSM133192"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2128954756",
        "rs": 2128954756
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 55174789,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 55174773
        }
      ],
      "hgvs": [
        "NC_000007.14:g.55174774_55174789delinsT",
        "CM000669.2:g.55174774_55174789delinsT"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 55242482,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 55242466
        }
      ],
      "hgvs": [
        "NC_000007.13:g.55242467_55242482delinsT",
        "CM000669.1:g.55242467_55242482delinsT"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 55209976,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 55209960
        }
      ],
      "hgvs": [
        "NC_000007.12:g.55209961_55209976delinsT"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 160758,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 160742
        }
      ],
      "hgvs": [
        "NG_007726.3:g.160743_160758delinsT",
        "LRG_304:g.160743_160758delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000672"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2400,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 2384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000450046.2:c.2078_2093delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000413354.2:p.Glu693_Thr698delinsVal",
        "hgvsWellDefined": "ENSP00000413354.2:p.Glu693_Thr698delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000700145.1:c.586_601delinsT"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS910995"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2513,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.7:c.2237_2252delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Glu746_Thr751delinsVal",
        "hgvsWellDefined": "ENSP00000275493.2:p.Glu746_Thr751delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743395",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2237_2252delinsT"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2237_2252delinsT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Glu746_Thr751delinsVal"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Glu746_Thr751delinsVal"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2429,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 2413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000275493.6:c.2237_2252delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000275493.2:p.Glu746_Thr751delinsVal",
        "hgvsWellDefined": "ENSP00000275493.2:p.Glu746_Thr751delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252621"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2162,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 2162,
          "startIntronDirection": "+",
          "startIntronOffset": 1845
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000442591.5:c.*28+1846_*28+1861delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410031.1:n.*28+1846_*28+1861delinsT"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2363,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 2347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000454757.6:c.2102_2117delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395243.3:p.Glu701_Thr706delinsVal",
        "hgvsWellDefined": "ENSP00000395243.3:p.Glu701_Thr706delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2374,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "ENST00000455089.5:c.2102_2117delinsT"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000415559.1:p.Glu701_Thr706delinsVal",
        "hgvsWellDefined": "ENSP00000415559.1:p.Glu701_Thr706delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302870"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074413213",
      "coordinates": [
        {
          "allele": "T",
          "end": 2498,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 2482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.3:c.2237_2252delinsT",
        "LRG_304t1:c.2237_2252delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Glu746_Thr751delinsVal",
        "hgvsWellDefined": "NP_005219.2:p.Glu746_Thr751delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030340"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2374,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.1:c.2102_2117delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Glu701_Thr706delinsVal",
        "hgvsWellDefined": "NP_001333826.1:p.Glu701_Thr706delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2509,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 2493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.1:c.2237_2252delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Glu746_Thr751delinsVal",
        "hgvsWellDefined": "NP_001333827.1:p.Glu746_Thr751delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2374,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.1:c.2102_2117delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Glu701_Thr706delinsVal",
        "hgvsWellDefined": "NP_001333828.1:p.Glu701_Thr706delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2306,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.1:c.2078_2093delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Glu693_Thr698delinsVal",
        "hgvsWellDefined": "NP_001333829.1:p.Glu693_Thr698delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1708,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 1692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.1:c.1436_1451delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.Glu479_Thr484delinsVal",
        "hgvsWellDefined": "NP_001333870.1:p.Glu479_Thr484delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS517714"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074413213",
      "coordinates": [
        {
          "allele": "T",
          "end": 2509,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 2493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.4:c.2237_2252delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Glu746_Thr751delinsVal",
        "hgvsWellDefined": "NP_005219.2:p.Glu746_Thr751delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3074413213",
      "coordinates": [
        {
          "allele": "T",
          "end": 2513,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_005228.5:c.2237_2252delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_005219.2:p.Glu746_Thr751delinsVal",
        "hgvsWellDefined": "NP_005219.2:p.Glu746_Thr751delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000275493.7:c.2237_2252delinsT"
          },
          "RefSeq": {
            "hgvs": "NM_005228.5:c.2237_2252delinsT"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000275493.2:p.Glu746_Thr751delinsVal"
          },
          "RefSeq": {
            "hgvs": "NP_005219.2:p.Glu746_Thr751delinsVal"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2378,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346897.2:c.2102_2117delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333826.1:p.Glu701_Thr706delinsVal",
        "hgvsWellDefined": "NP_001333826.1:p.Glu701_Thr706delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2513,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346898.2:c.2237_2252delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333827.1:p.Glu746_Thr751delinsVal",
        "hgvsWellDefined": "NP_001333827.1:p.Glu746_Thr751delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687443"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2284,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 2268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346900.2:c.2078_2093delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333829.1:p.Glu693_Thr698delinsVal",
        "hgvsWellDefined": "NP_001333829.1:p.Glu693_Thr698delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1712,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 1696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346941.2:c.1436_1451delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333870.1:p.Glu479_Thr484delinsVal",
        "hgvsWellDefined": "NP_001333870.1:p.Glu479_Thr484delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS687456"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2378,
          "referenceAllele": "AATTAAGAGAAGCAAC",
          "start": 2362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003236",
      "geneNCBI_id": 1956,
      "geneSymbol": "EGFR",
      "hgvs": [
        "NM_001346899.2:c.2102_2117delinsT"
      ],
      "proteinEffect": {
        "hgvs": "NP_001333828.1:p.Glu701_Thr706delinsVal",
        "hgvsWellDefined": "NP_001333828.1:p.Glu701_Thr706delinsVal"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719000"
    }
  ],
  "type": "nucleotide"
}